Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3747 | 11464;11465;11466 | chr2:178756237;178756236;178756235 | chr2:179620964;179620963;179620962 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | 3576 | 10951;10952;10953 | chr2:178756237;178756236;178756235 | chr2:179620964;179620963;179620962 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/V | None | None | None | None | None | 0.144 | None | gnomAD-4.0.0 | 6.85796E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.1616E-05 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.9221 | likely_pathogenic | None | None | -2.877 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/C | 0.9173 | likely_pathogenic | None | None | -2.177 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/D | 0.9968 | likely_pathogenic | None | None | -3.574 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/E | 0.9824 | likely_pathogenic | None | None | -3.28 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/F | 0.5408 | ambiguous | None | None | -1.723 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/G | 0.9795 | likely_pathogenic | None | None | -3.471 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/H | 0.9709 | likely_pathogenic | None | None | -3.081 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/I | 0.2074 | likely_benign | None | None | -1.102 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/K | 0.9697 | likely_pathogenic | None | None | -2.197 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/M | 0.4468 | ambiguous | None | None | -1.218 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/N | 0.9887 | likely_pathogenic | None | None | -2.808 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/P | 0.9814 | likely_pathogenic | None | None | -1.682 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/Q | 0.9497 | likely_pathogenic | None | None | -2.532 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/R | 0.9311 | likely_pathogenic | None | None | -2.073 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/S | 0.9831 | likely_pathogenic | None | None | -3.423 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/T | 0.9545 | likely_pathogenic | None | None | -2.974 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/V | 0.2964 | likely_benign | None | None | -1.682 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/W | 0.9322 | likely_pathogenic | None | None | -2.202 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/Y | 0.9484 | likely_pathogenic | None | None | -1.963 | Destabilizing | None | None | None | None | None | None | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.